Methods Inf Med 1993; 32(03): 255-259
DOI: 10.1055/s-0038-1634932
Original Article
Schattauer GmbH

The Role of Genetics in Defining Reference Values and Health Status

G. Siest
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
S. Visvikis
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
M. Zaiou
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
A. Régis
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
M. Jaid
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
J. Steinmetz
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
B. Herbeth
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
Y. Artur
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
F. Schiele
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
R. Gueguen
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
M. M. Galteau
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
J. Henny
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
,
J. P. Deschamps
1   Centre de Medecine Preventive, Vandoeurvre-les-Nancy, France
› Author Affiliations
Further Information

Publication History

Publication Date:
06 February 2018 (online)

Abstract:

Since its establishment, the Center for Preventive Medicine in Vandoeuvre-les-Nancy, France, performed specific studies on healthy humans, and its approach was very useful for defining reference values. Prevention should extend its interest to chronic diseases. The majority of important adult disorders are partially genetically determined. Genetic markers are also useful as exclusion or as partition criteria in the production of reference values. Results are presented that were obtained for apolipoproteins E, B and AIV, frequencies of these polymorphisms in the Lorraine population, and relationships between these polymorphisms and lipid metabolism-related parameters. Health checkup centers, in particular those involved in family screening, are well suited for reassembling many data concerning environmental factors: tobacco consumption, alimentation habits, or alcohol and drug consumption. Simultaneous determination of genetic markers could allow the determination of an individual’s susceptibility or resistance to developing a disease and to prepare a preventive action.

 
  • REFERENCES

  • 1 Grasbeck R, Siest G, Wilding P, Williams GZ, Whitehead TP. International Federation of Clinical Chemistry, the theory of reference values, Part 1: The concept of reference values. Clin Chim Acta 1978; 87: 459 F-65 F.
  • 2 Siest G, Henny J, Guize L. et al. Utilisation des valeurs de référence. Ann Biol Clin 1982; 40: 697-708.
  • 3 Siest G, Henny J, Schiele F. (eds). Références en Biologie Clinique. Amsterdam: Elsevier Science Publ; 1990
  • 4 Steinmetz J, Panek E, Siest G, Gueguen R. Factors affecting the concentration of triacylglycerols (triglycerides) in plasma: reference values for adults. Clin Chem 1979; 25: 924-32.
  • 5 Steinmetz J, Panek E, Siest G. Personal and familial factors in cholesterolemia: criteria for selection of a reference population. Clin Chem 1989; 26: 219-26.
  • 6 Steinmetz J, Parsy D. Apolipoprotéines A-I et B. In: Siest G, Henny J, Schiele F. (eds). References en Biologie Clinique. Amsterdam: Elsevier Science Publ; 1990: 107-21.
  • 7 Steinmetz J, Choukaife A, Visvikis S, Henny J, Siest G. Biological factors affecting concentrations of serum LpAI lipoprotein particles in serum, and determination of reference limits. Clin Chem 1990; 36: 677-80.
  • 8 Boerwinkle E, Visvikis S, Welsch D, Steinmetz S, Hanash S, Sing CF. The use of measured genotype information in the analysis of quantitative phenotype in man. II. The role of apolipoprotein E polymorphism in determining levels, variability and covariability of cholesterol, beta-lipoprotein and triglycerides in a sample of unrelated individuals. Am J Med Genet 1989; 27: 567-82.
  • 9 Weisgraber KH, Innearity TL, Mahley RW. Genetic variation in human apolipoprotein E. J Lipid Res 1982; 23: 1174-82.
  • 10 Gueguen R, Visvikis S, Steinmetz J, Siest G, Boerwinkle E. An analysis of genotype effects and their interactions using the apolipoprotein E polymorphism and longitudinal data. Am J Hum Genet 1989; 45: 793-802.
  • 11 Howard BV, Abbott WG, Egusaon G, Toskinen MR. Coordination of very low-density lipoprotein triglyceride and apolipoprotein B metabolism in humans: effects of obesity and non-insulin dependent diabetes mellitus. Am Heart J 1987; 113: 522-6.
  • 12 Brunzell JD, Sniderman AD, Albers SS, Kwiterovich PO. Apolipoprotein B and A-U and coronary artery disease in humans. Arteriosclerosis 1984; 04: 79-83.
  • 13 Ludwig EH, Blackhart BD, Pierotti VR. et al. DNA sequence of the human apolipoprotein B gene. DNA 1987; 04: 363-72.
  • 14 Randall LL, Hardi SJS. Unity in function in the absence of consensus in sequence, role of leader peptides in export. Science 1989; 243: 1156-9.
  • 15 Boerwinkle E, Chan L. A three codon insertion/deletion polymorphism in the signal peptide region of the human apolipoprotein B (apo B) gene directly typed by the polymerase chain reaction. Nucleic Acids Res 1989; 17: 4003.
  • 16 Visvikis S, Chan L, Siest G, Drouin P, Boerwinkle E. An insertion deletion polymorphism in the signal peptide of the human apolipoprotein B gene. Hum Genet 1990; 84: 373-5.
  • 17 Boerwinkle E, Chen SH, Visvikis S. et al. Signal peptide-length variations in human apolipoprotein B gene. Molecular characteristics and association with plasma glucose levels. Diabetes 1991; 40: 1539-44.
  • 18 Stein O, Stein Y, Lefevre M, Roheim PS. The role of apolipoprotein AIV in reverse cholesterol transport studied with cultured cells and liposomes derived from an ether analog of phosphatidylcholine. Bioch Bio-phys Acta 1986; 878: 7-13.